topic 2 human genetic disorders Flashcards
a genetic disease caused by a duplication (stutter) mutation; is a dominant disorder; a neurological disorder
huntington’s disease
A genetic disease caused by substitution mutation; is a dominant disorder; dwarfism (short stature)
achondroplasia
a genetic disease caused by a deletion mutation; is a recessive disorder; causes fluid build up in lungs
cystic fibrosis
a genetic disease caused by a substitution mutation; is a recessive disorder; causes irregularly shaper res blood cells
sick cell disease
a genetic disease caused by an inversion (the chromosome sequence is flipped around- a chromosomal mutation); is a recessive disorder; causes the blood to not be able to clot properly
hemophilia
a genetic disorder caused by many different types of mutations; is a recessive disorder; causes colors to not be viewed accurately
colorblindness
a genetic disorder caused by a chromosomal mutation in which part of chromosome 5 is deleted; children born with this generally die very young
cri du chat
a genetic disorder caused by a chromosomal mutation in which an extra chromosome 21 is inherited
down syndrome
a genetic disorder caused by a chromosomal mutation in which an extra x chromosome is inherited
kleinfelter syndrome
a genetic disorder caused by a chromosomal mutation in which an extra Y chromosome is inherited
jacob’s syndrome
a genetic disorder caused by a chromosomal mutation in which only 1 x chromosome is inherited
turner syndrome